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Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.
Vollstedt EJ, Madoev H, Aasly A, Ahmad-Annuar A, Al-Mubarak B, Alcalay RN, Alvarez V, Amorin I, Annesi G, Arkadir D, Bardien S, Barker RA, Barkhuizen M, Basak AN, Bonifati V, Boon A, Brighina L, Brockmann K, Carmine Belin A, Carr J, Clarimon J, Cornejo-Olivas M, Correia Guedes L, Corvol JC, Crosiers D, Damásio J, Das P, de Carvalho Aguiar P, De Rosa A, Dorszewska J, Ertan S, Ferese R, Ferreira J, Gatto E, Genç G, Giladi N, Gómez-Garre P, Hanagasi H, Hattori N, Hentati F, Hoffman-Zacharska D, Illarioshkin SN, Jankovic J, Jesús S, Kaasinen V, Kievit A, Klivenyi P, Kostic V, Koziorowski D, Kühn AA, Lang AE, Lim SY, Lin CH, Lohmann K, Markovic V, Martikainen MH, Mellick G, Merello M, Milanowski L, Mir P, Öztop-Çakmak Ö, Pimentel MMG, Pulkes T, Puschmann A, Rogaeva E, Sammler EM, Skaalum Petersen M, Skorvanek M, Spitz M, Suchowersky O, Tan AH, Termsarasab P, Thaler A, Tumas V, Valente EM, van de Warrenburg B, Williams-Gray CH, Wu RM, Zhang B, Zimprich A, Solle J, Padmanabhan S, Klein C. Vollstedt EJ, et al. Among authors: kuhn aa. PLoS One. 2023 Oct 3;18(10):e0292180. doi: 10.1371/journal.pone.0292180. eCollection 2023. PLoS One. 2023. PMID: 37788254 Free PMC article.
RAB39B mutations are a rare finding in Parkinson disease patients.
Löchte T, Brüggemann N, Vollstedt EJ, Krause P, Domingo A, Rosales R, Lee LV, Hopfner F, Westenberger A, Kühn A, Klein C, Lohmann K. Löchte T, et al. Parkinsonism Relat Disord. 2016 Feb;23:116-7. doi: 10.1016/j.parkreldis.2015.12.014. Epub 2015 Dec 22. Parkinsonism Relat Disord. 2016. PMID: 26739247 No abstract available.
The role of mutations in COL6A3 in isolated dystonia.
Lohmann K, Schlicht F, Svetel M, Hinrichs F, Zittel S, Graf J, Lohnau T, Schmidt A, Mir P, Krause P, Lang AE, Jabusch HC, Wolters A, Kamm C, Zeuner KE, Altenmüller E, Naz S, Chung SJ, Kostic VS, Münchau A, Kühn AA, Brüggemann N, Klein C. Lohmann K, et al. Among authors: kuhn aa. J Neurol. 2016 Apr;263(4):730-4. doi: 10.1007/s00415-016-8046-y. Epub 2016 Feb 12. J Neurol. 2016. PMID: 26872670
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.
Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VSC, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C. Westenberger A, et al. Among authors: kuhn aa. J Pediatr. 2017 Feb;181:306-308.e1. doi: 10.1016/j.jpeds.2016.10.079. Epub 2016 Dec 6. J Pediatr. 2017. PMID: 27931826
Role of ANO3 mutations in dystonia: A large-scale mutational screening study.
Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K. Olschewski L, et al. Among authors: kuhn aa. Parkinsonism Relat Disord. 2019 May;62:196-200. doi: 10.1016/j.parkreldis.2018.12.030. Epub 2019 Jan 2. Parkinsonism Relat Disord. 2019. PMID: 30712998
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort.
Usnich T, Vollstedt EJ, Schell N, Skrahina V, Bogdanovic X, Gaber H, Förster TM, Heuer A, Koleva-Alazeh N, Csoti I, Basak AN, Ertan S, Genc G, Bauer P, Lohmann K, Grünewald A, Schymanski EL, Trinh J, Schaake S, Berg D, Gruber D, Isaacson SH, Kühn AA, Mollenhauer B, Pedrosa DJ, Reetz K, Sammler EM, Valente EM, Valzania F, Volkmann J, Zittel S, Brüggemann N, Kasten M, Rolfs A, Klein C; LIPAD Study Group. Usnich T, et al. Among authors: kuhn aa. Front Neurol. 2021 Aug 9;12:710572. doi: 10.3389/fneur.2021.710572. eCollection 2021. Front Neurol. 2021. PMID: 34475849 Free PMC article.
Six Action Steps to Address Global Disparities in Parkinson Disease: A World Health Organization Priority.
Schiess N, Cataldi R, Okun MS, Fothergill-Misbah N, Dorsey ER, Bloem BR, Barretto M, Bhidayasiri R, Brown R, Chishimba L, Chowdhary N, Coslov M, Cubo E, Di Rocco A, Dolhun R, Dowrick C, Fung VSC, Gershanik OS, Gifford L, Gordon J, Khalil H, Kühn AA, Lew S, Lim SY, Marano MM, Micallef J, Mokaya J, Moukheiber E, Nwabuobi L, Okubadejo N, Pal PK, Shah H, Shalash A, Sherer T, Siddiqui B, Thompson T, Ullrich A, Walker R, Dua T. Schiess N, et al. Among authors: kuhn aa. JAMA Neurol. 2022 Sep 1;79(9):929-936. doi: 10.1001/jamaneurol.2022.1783. JAMA Neurol. 2022. PMID: 35816299
296 results